Varaico: Literature-Extracted Genetic Variants

Gene:FAS
Variant:p.P217_E218Splc
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FAS

NM_000043.6:p.P217_E218Splc

Associated Papers

Autoimmune lymphoproliferative syndrome: A disorder of immune dysregulation.

Paskiewicz A et al.

Autoimmunity Reviews, 2023

Role of RNA Alternative Splicing in T Cell Function and Disease.

Banerjee S et al.

Genes, 2023

Detection and evolutionary dynamics of somatic FAS variants in autoimmune lymphoproliferative syndrome: Diagnostic implications.

Batlle-Masó L et al.

Frontiers in Immunology, 2022

Correlation of mutational landscape and survival outcome of peripheral T-cell lymphomas.

Ye Y et al.

Experimental Hematology & Oncology, 2021

33546774 (PubMed )
Supplement: 40164_2021_200_MOESM2_ESM.xlsx › Table_S2

Next Generation Sequencing for Detecting Somatic FAS Mutations in Patients With Autoimmune Lymphoproliferative Syndrome.

López-Nevado M et al.

Frontiers in Immunology, 2021

Autoimmune lymphoproliferative syndrome: an update and review of the literature.

Shah S et al.

Current Allergy and Asthma Reports, 2014

Rituximab responsive immune thrombocytopenic purpura in an adult with underlying autoimmune lymphoproliferative syndrome due to a splice-site mutation (IVS7+2 T>C) affecting the Fas gene.

Wei A et al.

European Journal of Haematology, 2007

[Chronic granulomatous disease].

Alvarez-Cardona A et al.

Revista Alergia Mexico (tecamachalco, Puebla, Mexico : 1993), 0

[Satisfactory evolution of a patient diagnosed in childhood with Bruton's disease].

Román Jiménez MG et al.

Revista Alergia Mexico (tecamachalco, Puebla, Mexico : 1993), 0

[Wiskott-Aldrich syndrome].

Román Jiménez MG et al.

Revista Alergia Mexico (tecamachalco, Puebla, Mexico : 1993), 0

[Wiskott-Aldrich Syndrome: An updated review].

Blancas-Galicia L et al.

Revista Alergia Mexico (tecamachalco, Puebla, Mexico : 1993), 0

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."